Diagnosis by symptom Flashcards
Patient presents with: epicanthic folds Upslanting features Hypoplasia in midline Low set, small ears
Down Syndrome (47, +21)
Patient presents with: short stature low posterior hairline webbing of the neck coarction of the aorta cubitus valgus
Turner Syndrome (45, X)
Patient presents with Aortic dilation myopia iridodonesis arachnodactyly pectus excavatum
Marfan Syndrome
Patient presents with 6 cafe-au-lait spots Plexiform neuroma ADHD
Neurofibromatosis Type I
Patient presents with tiredness hepatosplenomegaly prominent forehead
alpha thalassemia
Patient presents with Feeling exhausted Jaundice Recent History Took quinine Eats fava beans all the time
Glucose-6-Phosphate Deficiency
Patient presents with Rapid onset of weight at age 2 Failure to thrive as an infant Small testes
Prader-Willi Syndrome
Patient presents with short stature short limbs large head
Achondroplasia
Patient presents with seizures hypotrophy of muscles lactic acidosis short stature repeat vomiting
MELAS
Patient presents with cleft lip or palate without a midline membrane close set (possibly fused) eyes Polydactyly, clenched fingers and toes cutis aplasia malformed ears
Patau Syndrome (47 +13) with holoprosencephaly
Patient presents with Feeling exhausted Social History Preferentially avoids meat, felt worse after eating
Ornithine transcarboxylase deficiency
Patient presents with failure to communicate Appears happy all the time Has very jerky arm and leg motions
Angelman Syndrome
Patient present with: very tall stature gynecomastia elongated extremities Poor secondary sex characteristic development
Kleinfelter Syndrome (47, XXY)
Patient presents with 3 hypopigmented regions on back connective tissue nevi acne-like appearance seizures
Tuberous Sclerosis
Patient presents with Failure to acquire development milestones Irascible hand wringing behavior
Retts Syndrome
Patient presents with “Greek helmet” facial type Cleft lip and/or cleft palate Poor growth with microcephaly Heart defects
Wolf-Hirschorn Syndrome
Patient presents with Stellate iris Periorbital fullness Prominent lips Hypercalcemia Supravalvular aortic stenosis Loquacious behavior
Williams Syndrome
Patient presents with Narrowing of the pulmonary trunk at the valve or below it at its infundibulum A ventricular septal defect Right ventricular hypertrophy Aortic valve is situated higher than the VSD
Tetralogy of Fallot
Patient presents with wide set eyes Poor growth microcephaly Heart defects Cat like cry
Cri-du-chat Syndrome
Patient presents with: small mouth, small jaw, short neck shield chest, short prominent sternum prominent occipital portion malformed ears clenched hands with overlapping fingers flexed big toe cleft palate
Edwards Syndrome (47, +18)
Adult patient presents with neurological deficits forgetfulness recent onset
Huntington’s Chorea
Patient presents with struggle to release grip droopy facial and jaw muscles diabetes mellitus
Myotonic Dystrophy
Patient presents with Facial dysmorphism Cleft palate Immunodeficiency Hypocalcemia Cardiac defects
Velo-cardial-facial syndrome
Patient presents with Serious limb malformations Seizures Heart defect Oligodactyly
Fanconi’s Anemia
Patient presents with blistering of skin poor hair growth areas of low pigment areas of high pigment abnormal nails
Inconscientia Pigmenti
Patient presents with Recurrent lung infections Chronic cough Diarrhea
Cystic Fibrosis with exocrine manifestations
Patient presents with Bowed legs Patient’s labs show: Normal calcium Normal Vitamin D Low phosphate
Vitamin D Resistant Rickets
Patient presents with Calf hypertrophy Hypotrophic thigh muscles, arm muscles Poor ambulation Cardiomyopathy
Duchenne Muscular Dystrophy
Adult patient presents with recent bronzing to skin no outdoor exposure
Hemochromatosis
Patient presents with Progressive worsening vision since 13th birthday
Leber Hereditary Optic Neuropathy
Patient presents with Severe, full-bodied edema hepatosplenomegaly severe genital malformations
hydrops fetalis
